SNP Links for Gene (Select 55055) - SNP

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Select item 14915147191.

rs1491514719 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:66507938 (GRCh38)
15:66800276 (GRCh37)
Canonical SPDI:: NC_000015.10:66507937:CA:
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.66507938_66507939del, NC_000015.9:g.66800276_66800277del

Select item 14915131342.

rs1491513134 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,ACATATATATAG,AG,AGATATATAG,ATAG,ATAGAG,ATATAG,ATATATAG,ATATATATAG,ATATATATATAG,ATATATATATATAG,ATATATATATATATATATATAG,ATATATGG,ATATGG,ATGG,G,GG [Show Flanks]
Chromosome:: 15:66509870 (GRCh38)
15:66802209 (GRCh37)
Canonical SPDI:: NC_000015.10:66509870::AA,NC_000015.10:66509870::ACATATATATAG,NC_000015.10:66509870::AG,NC_000015.10:66509870::AGATATATAG,NC_000015.10:66509870::ATAG,NC_000015.10:66509870::ATAGAG,NC_000015.10:66509870::ATATAG,NC_000015.10:66509870::ATATATAG,NC_000015.10:66509870::ATATATATAG,NC_000015.10:66509870::ATATATATATAG,NC_000015.10:66509870::ATATATATATATAG,NC_000015.10:66509870::ATATATATATATATATATATAG,NC_000015.10:66509870::ATATATGG,NC_000015.10:66509870::ATATGG,NC_000015.10:66509870::ATGG,NC_000015.10:66509870::G,NC_000015.10:66509870::GG
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAG=0./0 (ALFA)
ATAG=0.00006/1 (TOMMO)
HGVS:: NC_000015.10:g.66509870_66509871insAA, NC_000015.10:g.66509870_66509871insACATATATATAG, NC_000015.10:g.66509870_66509871insAG, NC_000015.10:g.66509870_66509871insAGATATATAG, NC_000015.10:g.66509870_66509871insATAG, NC_000015.10:g.66509870_66509871insATAGAG, NC_000015.10:g.66509870_66509871insATATAG, NC_000015.10:g.66509870_66509871insATATATAG, NC_000015.10:g.66509870_66509871insATATATATAG, NC_000015.10:g.66509870_66509871insATATATATATAG, NC_000015.10:g.66509870_66509871insATATATATATATAG, NC_000015.10:g.66509870_66509871insATATATATATATATATATATAG, NC_000015.10:g.66509870_66509871insATATATGG, NC_000015.10:g.66509870_66509871insATATGG, NC_000015.10:g.66509870_66509871insATGG, NC_000015.10:g.66509870_66509871insG, NC_000015.10:g.66509870_66509871insGG, NC_000015.9:g.66802208_66802209insAA, NC_000015.9:g.66802208_66802209insACATATATATAG, NC_000015.9:g.66802208_66802209insAG, NC_000015.9:g.66802208_66802209insAGATATATAG, NC_000015.9:g.66802208_66802209insATAG, NC_000015.9:g.66802208_66802209insATAGAG, NC_000015.9:g.66802208_66802209insATATAG, NC_000015.9:g.66802208_66802209insATATATAG, NC_000015.9:g.66802208_66802209insATATATATAG, NC_000015.9:g.66802208_66802209insATATATATATAG, NC_000015.9:g.66802208_66802209insATATATATATATAG, NC_000015.9:g.66802208_66802209insATATATATATATATATATATAG, NC_000015.9:g.66802208_66802209insATATATGG, NC_000015.9:g.66802208_66802209insATATGG, NC_000015.9:g.66802208_66802209insATGG, NC_000015.9:g.66802208_66802209insG, NC_000015.9:g.66802208_66802209insGG

Select item 14914822403.

rs1491482240 has merged into rs1384542559 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>-,GCGC,GCGCGC [Show Flanks]
Chromosome:: 15:66533730 (GRCh38)
15:66826068 (GRCh37)
Canonical SPDI:: NC_000015.10:66533726:CGCGC:CGC,NC_000015.10:66533726:CGCGC:CGCGCGC,NC_000015.10:66533726:CGCGC:CGCGCGCGC
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CGCGCGC=0./0 (ALFA)
CGCG=0.000049/13 (TOPMED)
HGVS:: NC_000015.10:g.66533728GC[1], NC_000015.10:g.66533728GC[3], NC_000015.10:g.66533728GC[4], NC_000015.9:g.66826066GC[1], NC_000015.9:g.66826066GC[3], NC_000015.9:g.66826066GC[4]

Select item 14914769284.

rs1491476928 has merged into rs1555424251 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 15:66517449 (GRCh38)
15:66809787 (GRCh37)
Canonical SPDI:: NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATA,NC_000015.10:66517430:TATATATATATATATATATATATATA:TATATATATATATATATATATATATATATATATATATATATATATA
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000015.10:g.66517431TA[9], NC_000015.10:g.66517431TA[10], NC_000015.10:g.66517431TA[11], NC_000015.10:g.66517431TA[12], NC_000015.10:g.66517431TA[14], NC_000015.10:g.66517431TA[15], NC_000015.10:g.66517431TA[16], NC_000015.10:g.66517431TA[17], NC_000015.10:g.66517431TA[18], NC_000015.10:g.66517431TA[19], NC_000015.10:g.66517431TA[20], NC_000015.10:g.66517431TA[21], NC_000015.10:g.66517431TA[22], NC_000015.10:g.66517431TA[23], NC_000015.9:g.66809769TA[9], NC_000015.9:g.66809769TA[10], NC_000015.9:g.66809769TA[11], NC_000015.9:g.66809769TA[12], NC_000015.9:g.66809769TA[14], NC_000015.9:g.66809769TA[15], NC_000015.9:g.66809769TA[16], NC_000015.9:g.66809769TA[17], NC_000015.9:g.66809769TA[18], NC_000015.9:g.66809769TA[19], NC_000015.9:g.66809769TA[20], NC_000015.9:g.66809769TA[21], NC_000015.9:g.66809769TA[22], NC_000015.9:g.66809769TA[23]

Select item 14913808495.

rs1491380849 has merged into rs1161719182 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:66517735 (GRCh38)
15:66810073 (GRCh37)
Canonical SPDI:: NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:66517726:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.66517735_66517752del, NC_000015.10:g.66517738_66517752del, NC_000015.10:g.66517739_66517752del, NC_000015.10:g.66517740_66517752del, NC_000015.10:g.66517741_66517752del, NC_000015.10:g.66517742_66517752del, NC_000015.10:g.66517743_66517752del, NC_000015.10:g.66517744_66517752del, NC_000015.10:g.66517745_66517752del, NC_000015.10:g.66517746_66517752del, NC_000015.10:g.66517747_66517752del, NC_000015.10:g.66517748_66517752del, NC_000015.10:g.66517749_66517752del, NC_000015.10:g.66517750_66517752del, NC_000015.10:g.66517751_66517752del, NC_000015.10:g.66517752del, NC_000015.10:g.66517752dup, NC_000015.10:g.66517751_66517752dup, NC_000015.10:g.66517750_66517752dup, NC_000015.10:g.66517749_66517752dup, NC_000015.10:g.66517748_66517752dup, NC_000015.10:g.66517747_66517752dup, NC_000015.10:g.66517746_66517752dup, NC_000015.10:g.66517744_66517752dup, NC_000015.10:g.66517741_66517752dup, NC_000015.10:g.66517738_66517752dup, NC_000015.10:g.66517733_66517752dup, NC_000015.10:g.66517752_66517753insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.66810073_66810090del, NC_000015.9:g.66810076_66810090del, NC_000015.9:g.66810077_66810090del, NC_000015.9:g.66810078_66810090del, NC_000015.9:g.66810079_66810090del, NC_000015.9:g.66810080_66810090del, NC_000015.9:g.66810081_66810090del, NC_000015.9:g.66810082_66810090del, NC_000015.9:g.66810083_66810090del, NC_000015.9:g.66810084_66810090del, NC_000015.9:g.66810085_66810090del, NC_000015.9:g.66810086_66810090del, NC_000015.9:g.66810087_66810090del, NC_000015.9:g.66810088_66810090del, NC_000015.9:g.66810089_66810090del, NC_000015.9:g.66810090del, NC_000015.9:g.66810090dup, NC_000015.9:g.66810089_66810090dup, NC_000015.9:g.66810088_66810090dup, NC_000015.9:g.66810087_66810090dup, NC_000015.9:g.66810086_66810090dup, NC_000015.9:g.66810085_66810090dup, NC_000015.9:g.66810084_66810090dup, NC_000015.9:g.66810082_66810090dup, NC_000015.9:g.66810079_66810090dup, NC_000015.9:g.66810076_66810090dup, NC_000015.9:g.66810071_66810090dup, NC_000015.9:g.66810090_66810091insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14913576766.

rs1491357676 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATGCGTGT [Show Flanks]
Chromosome:: 15:66517409 (GRCh38)
15:66809748 (GRCh37)
Canonical SPDI:: NC_000015.10:66517409:GTGT:GTGTATGCGTGT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGTATGCGTGT=0./0 (ALFA)
GTGTATGC=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.66517410_66517413GT[2]ATGCGTGT[1], NC_000015.9:g.66809748_66809751GT[2]ATGCGTGT[1]

Select item 14913291587.

rs1491329158 has merged into rs1235355403 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>-,CT,CTCTCT,CTCTCTCT [Show Flanks]
Chromosome:: 15:66509871 (GRCh38)
15:66802209 (GRCh37)
Canonical SPDI:: NC_000015.10:66509869:TCTCT:T,NC_000015.10:66509869:TCTCT:TCT,NC_000015.10:66509869:TCTCT:TCTCTCT,NC_000015.10:66509869:TCTCT:TCTCTCTCT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.00018/3 (TOMMO)
HGVS:: NC_000015.10:g.66509871_66509874del, NC_000015.10:g.66509871CT[1], NC_000015.10:g.66509871CT[3], NC_000015.10:g.66509871CT[4], NC_000015.9:g.66802209_66802212del, NC_000015.9:g.66802209CT[1], NC_000015.9:g.66802209CT[3], NC_000015.9:g.66802209CT[4]

Select item 14913291518.

rs1491329151 has merged into rs1041183263 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 15:66517413 (GRCh38)
15:66809751 (GRCh37)
Canonical SPDI:: NC_000015.10:66517408:TGTGTGTG:TGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTGTGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTGTGTGTGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTGTGTGTGTGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000015.10:66517408:TGTGTGTG:TGTGTGTGTGTGTGTGTGTG
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTG=0./0 (ALFA)
TG=0.00111/2 (Korea1K)
HGVS:: NC_000015.10:g.66517409TG[2], NC_000015.10:g.66517409TG[3], NC_000015.10:g.66517409TG[5], NC_000015.10:g.66517409TG[7], NC_000015.10:g.66517409TG[8], NC_000015.10:g.66517409TG[9], NC_000015.10:g.66517409TG[10], NC_000015.9:g.66809747TG[2], NC_000015.9:g.66809747TG[3], NC_000015.9:g.66809747TG[5], NC_000015.9:g.66809747TG[7], NC_000015.9:g.66809747TG[8], NC_000015.9:g.66809747TG[9], NC_000015.9:g.66809747TG[10]

Select item 14912943109.

rs1491294310 has merged into rs34334763 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:66507949 (GRCh38)
15:66800287 (GRCh37)
Canonical SPDI:: NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:66507938:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66507949_66507955del, NC_000015.10:g.66507950_66507955del, NC_000015.10:g.66507952_66507955del, NC_000015.10:g.66507953_66507955del, NC_000015.10:g.66507954_66507955del, NC_000015.10:g.66507955del, NC_000015.10:g.66507955dup, NC_000015.10:g.66507954_66507955dup, NC_000015.10:g.66507953_66507955dup, NC_000015.10:g.66507950_66507955dup, NC_000015.10:g.66507947_66507955dup, NC_000015.9:g.66800287_66800293del, NC_000015.9:g.66800288_66800293del, NC_000015.9:g.66800290_66800293del, NC_000015.9:g.66800291_66800293del, NC_000015.9:g.66800292_66800293del, NC_000015.9:g.66800293del, NC_000015.9:g.66800293dup, NC_000015.9:g.66800292_66800293dup, NC_000015.9:g.66800291_66800293dup, NC_000015.9:g.66800288_66800293dup, NC_000015.9:g.66800285_66800293dup

Select item 149124073010.

rs1491240730 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:66544720 (GRCh38)
15:66837058 (GRCh37)
Canonical SPDI:: NC_000015.10:66544719:GT:
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00066/28 (GnomAD)
HGVS:: NC_000015.10:g.66544720_66544721del, NC_000015.9:g.66837058_66837059del

Select item 149123532411.

rs1491235324 has merged into rs1555426549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:66544722 (GRCh38)
15:66837060 (GRCh37)
Canonical SPDI:: NC_000015.10:66544720:TTTTT:T,NC_000015.10:66544720:TTTTT:TT,NC_000015.10:66544720:TTTTT:TTT,NC_000015.10:66544720:TTTTT:TTTT,NC_000015.10:66544720:TTTTT:TTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTTTT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.02/12 (NorthernSweden)
HGVS:: NC_000015.10:g.66544722_66544725del, NC_000015.10:g.66544723_66544725del, NC_000015.10:g.66544724_66544725del, NC_000015.10:g.66544725del, NC_000015.10:g.66544725dup, NC_000015.10:g.66544724_66544725dup, NC_000015.10:g.66544723_66544725dup, NC_000015.10:g.66544722_66544725dup, NC_000015.10:g.66544721_66544725dup, NC_000015.10:g.66544725_66544726insTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTTTT, NC_000015.9:g.66837060_66837063del, NC_000015.9:g.66837061_66837063del, NC_000015.9:g.66837062_66837063del, NC_000015.9:g.66837063del, NC_000015.9:g.66837063dup, NC_000015.9:g.66837062_66837063dup, NC_000015.9:g.66837061_66837063dup, NC_000015.9:g.66837060_66837063dup, NC_000015.9:g.66837059_66837063dup, NC_000015.9:g.66837063_66837064insTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTTTT

Select item 149115221312.

rs1491152213 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 15:66530811 (GRCh38)
15:66823149 (GRCh37)
Canonical SPDI:: NC_000015.10:66530808:TTTT:TT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000162/3 (ALFA)
-=0.00013/18 (GnomAD)
-=0.000147/39 (TOPMED)
-=0.000223/1 (Estonian)
HGVS:: NC_000015.10:g.66530811_66530812del, NC_000015.9:g.66823149_66823150del

Select item 149111639613.

rs1491116396 has merged into rs1555426549 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:66544722 (GRCh38)
15:66837060 (GRCh37)
Canonical SPDI:: NC_000015.10:66544720:TTTTT:T,NC_000015.10:66544720:TTTTT:TT,NC_000015.10:66544720:TTTTT:TTT,NC_000015.10:66544720:TTTTT:TTTT,NC_000015.10:66544720:TTTTT:TTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:66544720:TTTTT:TTTTTTTTTTTTTTTTT
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.02/12 (NorthernSweden)
HGVS:: NC_000015.10:g.66544722_66544725del, NC_000015.10:g.66544723_66544725del, NC_000015.10:g.66544724_66544725del, NC_000015.10:g.66544725del, NC_000015.10:g.66544725dup, NC_000015.10:g.66544724_66544725dup, NC_000015.10:g.66544723_66544725dup, NC_000015.10:g.66544722_66544725dup, NC_000015.10:g.66544721_66544725dup, NC_000015.10:g.66544725_66544726insTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTTT, NC_000015.10:g.66544725_66544726insTTTTTTTTTTTT, NC_000015.9:g.66837060_66837063del, NC_000015.9:g.66837061_66837063del, NC_000015.9:g.66837062_66837063del, NC_000015.9:g.66837063del, NC_000015.9:g.66837063dup, NC_000015.9:g.66837062_66837063dup, NC_000015.9:g.66837061_66837063dup, NC_000015.9:g.66837060_66837063dup, NC_000015.9:g.66837059_66837063dup, NC_000015.9:g.66837063_66837064insTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTTT, NC_000015.9:g.66837063_66837064insTTTTTTTTTTTT

Select item 149111204314.

rs1491112043 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 15:66517726 (GRCh38)
15:66810064 (GRCh37)
Canonical SPDI:: NC_000015.10:66517725:CT:
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
-=0.00003/3 (GnomAD)
HGVS:: NC_000015.10:g.66517726_66517727del, NC_000015.9:g.66810064_66810065del

Select item 149089322515.

rs1490893225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66518102 (GRCh38)
15:66810440 (GRCh37)
Canonical SPDI:: NC_000015.10:66518101:C:T
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.66518102C>T, NC_000015.9:g.66810440C>T

Select item 149087605716.

rs1490876057 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66534371 (GRCh38)
15:66826709 (GRCh37)
Canonical SPDI:: NC_000015.10:66534370:G:A
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000015.10:g.66534371G>A, NC_000015.9:g.66826709G>A

Select item 149082741617.

rs1490827416 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:66549816 (GRCh38)
15:66842154 (GRCh37)
Canonical SPDI:: NC_000015.10:66549815:C:T
Gene:: ZWILCH (Varview), LCTL (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66549816C>T, NC_000015.9:g.66842154C>T, NM_017975.5:c.*1492C>T, XR_001751344.3:n.3379C>T, NM_001287821.2:c.*1492C>T, NM_001287822.2:c.*1492C>T, NM_001287823.2:c.*1492C>T, XR_007064470.1:n.3327C>T

Select item 149081957018.

rs1490819570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 15:66535447 (GRCh38)
15:66827785 (GRCh37)
Canonical SPDI:: NC_000015.10:66535446:A:C
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.66535447A>C, NC_000015.9:g.66827785A>C

Select item 149080600619.

rs1490806006 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:66520607 (GRCh38)
15:66812945 (GRCh37)
Canonical SPDI:: NC_000015.10:66520606:G:A
Gene:: ZWILCH (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000015.10:g.66520607G>A, NC_000015.9:g.66812945G>A, NM_017975.5:c.538G>A, NM_017975.4:c.538G>A, NM_017975.3:c.538G>A, XR_001751344.3:n.551G>A, XR_001751344.2:n.746G>A, XR_001751344.1:n.760G>A, NM_001287821.2:c.196G>A, NM_001287821.1:c.196G>A, NM_001287822.2:c.196G>A, NM_001287822.1:c.196G>A, NM_001287823.2:c.196G>A, NM_001287823.1:c.196G>A, XR_007064470.1:n.499G>A, NR_003105.1:n.879G>A, NP_060445.3:p.Val180Ile, NP_001274750.1:p.Val66Ile, NP_001274751.1:p.Val66Ile, NP_001274752.1:p.Val66Ile

Select item 149074994520.

rs1490749945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 15:66539400 (GRCh38)
15:66831738 (GRCh37)
Canonical SPDI:: NC_000015.10:66539399:T:A,NC_000015.10:66539399:T:C
Gene:: ZWILCH (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.025/73 (KOREAN)
HGVS:: NC_000015.10:g.66539400T>A, NC_000015.10:g.66539400T>C, NC_000015.9:g.66831738T>A, NC_000015.9:g.66831738T>C

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